Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578081_108578088delCA2695235187COL4A5c.649_656del (p.Asn217LeufsTer9)
c.325_332del (p.Asn109LeufsTer9)
c.664_671del (p.Asn222LeufsTer9)
Xg.108578087G>ACA258308COL4A5c.655G>A (p.Gly219Ser)
c.331G>A (p.Gly111Ser)
c.670G>A (p.Gly224Ser)
ClinVar dbSNP
Xg.108578087G>CCA413923557COL4A5c.655G>C (p.Gly219Arg)
c.331G>C (p.Gly111Arg)
c.670G>C (p.Gly224Arg)
Xg.108578087G=CA2450682222COL4A5c.655G= (p.Gly219=)
c.331G= (p.Gly111=)
c.670G= (p.Gly224=)
Xg.108578087G>TCA413923540COL4A5c.655G>T (p.Gly219Cys)
c.331G>T (p.Gly111Cys)
c.670G>T (p.Gly224Cys)
Xg.108578088G>ACA413923568COL4A5c.656G>A (p.Gly219Asp)
c.332G>A (p.Gly111Asp)
c.671G>A (p.Gly224Asp)
Xg.108578088G>CCA413923569COL4A5c.656G>C (p.Gly219Ala)
c.332G>C (p.Gly111Ala)
c.671G>C (p.Gly224Ala)
Xg.108578088G>TCA413923570COL4A5c.656G>T (p.Gly219Val)
c.332G>T (p.Gly111Val)
c.671G>T (p.Gly224Val)
Xg.108578089C>ACA517991749COL4A5c.657C>A (p.Gly219=)
c.333C>A (p.Gly111=)
c.672C>A (p.Gly224=)
gnomAD v4
Xg.108578089C>GCA517991750COL4A5c.657C>G (p.Gly219=)
c.333C>G (p.Gly111=)
c.672C>G (p.Gly224=)
Xg.108578089C>TCA517991751COL4A5c.657C>T (p.Gly219=)
c.333C>T (p.Gly111=)
c.672C>T (p.Gly224=)
Xg.108578090T>ACA413923571COL4A5c.658T>A (p.Leu220Ile)
c.334T>A (p.Leu112Ile)
c.673T>A (p.Leu225Ile)
Xg.108578090T>CCA517991752COL4A5c.658T>C (p.Leu220=)
c.334T>C (p.Leu112=)
c.673T>C (p.Leu225=)
Xg.108578090T>GCA413923572COL4A5c.658T>G (p.Leu220Val)
c.334T>G (p.Leu112Val)
c.673T>G (p.Leu225Val)
Xg.108578091T>ACA413923574COL4A5c.659T>A (p.Leu220Ter)
c.335T>A (p.Leu112Ter)
c.674T>A (p.Leu225Ter)
ClinVar dbSNP
Xg.108578091T>CCA413923575COL4A5c.659T>C (p.Leu220Ser)
c.335T>C (p.Leu112Ser)
c.674T>C (p.Leu225Ser)
Xg.108578091T>GCA413923576COL4A5c.659T>G (p.Leu220Ter)
c.335T>G (p.Leu112Ter)
c.674T>G (p.Leu225Ter)
ClinVar dbSNP
Xg.108578091T=CA2450682223COL4A5c.659T= (p.Leu220=)
c.335T= (p.Leu112=)
c.674T= (p.Leu225=)
Xg.108578092A>CCA413923577COL4A5c.660A>C (p.Leu220Phe)
c.336A>C (p.Leu112Phe)
c.675A>C (p.Leu225Phe)
Xg.108578092A>GCA517991753COL4A5c.660A>G (p.Leu220=)
c.336A>G (p.Leu112=)
c.675A>G (p.Leu225=)
Xg.108578092A>TCA413923580COL4A5c.660A>T (p.Leu220Phe)
c.336A>T (p.Leu112Phe)
c.675A>T (p.Leu225Phe)
Xg.108578094delCA2695235188COL4A5c.662del (p.Asn221IlefsTer?)
c.338del (p.Asn113IlefsTer?)
c.677del (p.Asn226IlefsTer?)
Xg.108578093A=CA2450682224COL4A5c.661A= (p.Asn221=)
c.337A= (p.Asn113=)
c.676A= (p.Asn226=)
Xg.108578093A>CCA413923587COL4A5c.661A>C (p.Asn221His)
c.337A>C (p.Asn113His)
c.676A>C (p.Asn226His)
Xg.108578093A>GCA413923591COL4A5c.661A>G (p.Asn221Asp)
c.337A>G (p.Asn113Asp)
c.676A>G (p.Asn226Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.108578093A>TCA413923598COL4A5c.661A>T (p.Asn221Tyr)
c.337A>T (p.Asn113Tyr)
c.676A>T (p.Asn226Tyr)
Xg.108578094A>CCA413923606COL4A5c.662A>C (p.Asn221Thr)
c.338A>C (p.Asn113Thr)
c.677A>C (p.Asn226Thr)
Xg.108578094A>GCA413923611COL4A5c.662A>G (p.Asn221Ser)
c.338A>G (p.Asn113Ser)
c.677A>G (p.Asn226Ser)
COSMIC COSMIC
Xg.108578094A>TCA413923601COL4A5c.662A>T (p.Asn221Ile)
c.338A>T (p.Asn113Ile)
c.677A>T (p.Asn226Ile)
Xg.108578095T>ACA413923620COL4A5c.663T>A (p.Asn221Lys)
c.339T>A (p.Asn113Lys)
c.678T>A (p.Asn226Lys)
Xg.108578095T>CCA517991754COL4A5c.663T>C (p.Asn221=)
c.339T>C (p.Asn113=)
c.678T>C (p.Asn226=)
Xg.108578095T>GCA413923622COL4A5c.663T>G (p.Asn221Lys)
c.339T>G (p.Asn113Lys)
c.678T>G (p.Asn226Lys)
Xg.108578096T>ACA413923626COL4A5c.664T>A (p.Phe222Ile)
c.340T>A (p.Phe114Ile)
c.679T>A (p.Phe227Ile)
Xg.108578096T>CCA413923638COL4A5c.664T>C (p.Phe222Leu)
c.340T>C (p.Phe114Leu)
c.679T>C (p.Phe227Leu)
Xg.108578096T>GCA413923631COL4A5c.664T>G (p.Phe222Val)
c.340T>G (p.Phe114Val)
c.679T>G (p.Phe227Val)
Xg.108578097T>ACA413923642COL4A5c.665T>A (p.Phe222Tyr)
c.341T>A (p.Phe114Tyr)
c.680T>A (p.Phe227Tyr)
Xg.108578097T>CCA413923644COL4A5c.665T>C (p.Phe222Ser)
c.341T>C (p.Phe114Ser)
c.680T>C (p.Phe227Ser)
Xg.108578097T>GCA261044COL4A5c.665T>G (p.Phe222Cys)
c.341T>G (p.Phe114Cys)
c.680T>G (p.Phe227Cys)
ClinVar dbSNP
Xg.108578097T=CA2450682225COL4A5c.665T= (p.Phe222=)
c.341T= (p.Phe114=)
c.680T= (p.Phe227=)
Xg.108578098C>ACA413923646COL4A5c.666C>A (p.Phe222Leu)
c.342C>A (p.Phe114Leu)
c.681C>A (p.Phe227Leu)
Xg.108578098C>GCA413923651COL4A5c.666C>G (p.Phe222Leu)
c.342C>G (p.Phe114Leu)
c.681C>G (p.Phe227Leu)
gnomAD v4
Xg.108578098C>TCA517991755COL4A5c.666C>T (p.Phe222=)
c.342C>T (p.Phe114=)
c.681C>T (p.Phe227=)
gnomAD v4 COSMIC COSMIC
Xg.108578099C>ACA413923655COL4A5c.667C>A (p.Gln223Lys)
c.343C>A (p.Gln115Lys)
c.682C>A (p.Gln228Lys)
Xg.108578099C=CA2450682226COL4A5c.667C= (p.Gln223=)
c.343C= (p.Gln115=)
c.682C= (p.Gln228=)
Xg.108578099C>GCA413923663COL4A5c.667C>G (p.Gln223Glu)
c.343C>G (p.Gln115Glu)
c.682C>G (p.Gln228Glu)
dbSNP gnomAD v2 gnomAD v4
Xg.108578099C>TCA413923669COL4A5c.667C>T (p.Gln223Ter)
c.343C>T (p.Gln115Ter)
c.682C>T (p.Gln228Ter)
Xg.108578100delCA2579675938COL4A5c.668del (p.Gln223ArgfsTer?)
c.344del (p.Gln115ArgfsTer?)
c.683del (p.Gln228ArgfsTer?)
Xg.108578100A>CCA413923671COL4A5c.668A>C (p.Gln223Pro)
c.344A>C (p.Gln115Pro)
c.683A>C (p.Gln228Pro)
Xg.108578100A>GCA413923672COL4A5c.668A>G (p.Gln223Arg)
c.344A>G (p.Gln115Arg)
c.683A>G (p.Gln228Arg)
gnomAD v4
Xg.108578100A>TCA413923673COL4A5c.668A>T (p.Gln223Leu)
c.344A>T (p.Gln115Leu)
c.683A>T (p.Gln228Leu)

Number of alleles fetched